RELA融合基因阳性室管膜瘤11例临床病理分析
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摘要
目的探讨RELA融合基因阳性室管膜瘤的临床病理学特征。方法回顾性分析11例RELA融合基因阳性室管膜瘤的临床资料、影像学特点、病理学特征和免疫表型,并复习相关文献。结果 11例RELA融合基因阳性室管膜瘤均位于幕上,男性6例、女性5例,发病年龄3～56岁,平均27岁。影像学示幕上占位性病变。镜下见分支状毛细血管网和真/假菊形团结构。免疫表型:瘤细胞GFAP、L1CAM、Cyclin D1均呈弥漫阳性,EMA呈核旁点状阳性,多数病例表达nestin,Olig-2均阴性。结论RELA融合基因阳性室管膜瘤好发于年轻人的幕上,具有独特的免疫表型和基因表型,预后较差,需进行诊断与鉴别诊断。
Purpose To investigate the clinicopathologic features of RELA fusion-positive ependymoma. Methods The clinical manifestations, radiological appearance, pathological and immunohistochemical findings and immunophenotype in 11 cases of RELA fusion-positive ependymoma were retrospectively analyzed,and the related literature was reviewed. Results Eleven cases of RELA fusion-positive ependymomas occured in the supratentorial region. There were 6 males and 5 females ranged in age from 3-56 years( median = 27). Imaging showed the occupying lesion in the supratentorial region. Histologically,a distinctive branching network of delicate capillaries and( true)ependymal rosettes/pseudorosettes were observed. Immunohistochemically,the tumor cells were diffusely positive for GFAP,L1 CAM and Cyclin D1,and EMA staining with dot-like cytoplasmic reactivity were observed. Most of the cases showed a positive for nestin,but all of the cases showed negative for Olig-2. Conclusion RELA fusion-positive ependymomas usually affect the supratentorial region of young people,which have unique immunophenotype and gene phenotype,and are characterized by poor prognosis. This type of ependymoma should be identified in the diagnosis and differential diagnosis.
Purpose To investigate the clinicopathologic features of RELA fusion-positive ependymoma. Methods The clinical manifestations, radiological appearance, pathological and immunohistochemical findings and immunophenotype in 11 cases of RELA fusion-positive ependymoma were retrospectively analyzed,and the related literature was reviewed. Results Eleven cases of RELA fusion-positive ependymomas occured in the supratentorial region. There were 6 males and 5 females ranged in age from 3-56 years( median = 27). Imaging showed the occupying lesion in the supratentorial region. Histologically,a distinctive branching network of delicate capillaries and( true)ependymal rosettes/pseudorosettes were observed. Immunohistochemically,the tumor cells were diffusely positive for GFAP,L1 CAM and Cyclin D1,and EMA staining with dot-like cytoplasmic reactivity were observed. Most of the cases showed a positive for nestin,but all of the cases showed negative for Olig-2. Conclusion RELA fusion-positive ependymomas usually affect the supratentorial region of young people,which have unique immunophenotype and gene phenotype,and are characterized by poor prognosis. This type of ependymoma should be identified in the diagnosis and differential diagnosis.
引文
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[2]Pajtler K W,Witt H,Sill M,et al.Molecular classification of ependymal tumors across all CNS compartments,histopathological grades,and age groups[J].Cancer Cell,2015,27(5):728-743.
[3]Louis D N,Perry A,Reifenberger G,et al.The 2016 world health organization classification of tumors of the central nervous system:a summary[J].Acta Neuropathol,2016,131(6):803-820.
[4]Gajjar A,Pfister S M,Taylor M D,et al.Molecular insights into pediatric brain tumors have the potential to transform therapy[J].Clin Cancer Res,2014,20(22):5630-5640.
[5]Ostrom Q T,Bauchet L,Davis F G,et al.The epidemiology of glioma in adults:a"state of the science"review[J].Neuro Oncol,2014,16(7):896-913.
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[8]Milde T,Hielscher T,Witt H,et al.Nestin expression identifies ependymoma patients with poor outcome[J].Brain Pathol,2012,22(6):848-860.
[9]Parker M,Mohankumar K M,Punchihewa C,et al.C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma[J].Nature,2014,506(7489):451-455.
[10]Johnson R A,Wright K D,Poppleton H,et al.Cross-species genomics matches driver mutations and cell compartments to model ependymoma[J].Nature,2010,466(7306):632-636.
[11]Pietsch T,Wohlers I,Goschzik T,et al.Supratentorial ependymomas of childhood carry C11orf95-RELA fusions leading to pathological activation of the NF-κB signaling pathway[J].Acta Neuropathol,2014,127(4):609-611.
[12]Kiefel H,Bondong S,Hazin J,et al.L1CAM:a major driver for tumor cell invasion and motility[J].Cell Adh Migr,2012,6(4):374-384.
[13]何晓顺,王希明,黄山,等.成人室管膜瘤的临床病理特点和预后分析[J].临床与实验病理学杂志,2017,33(11):1248-1250.